Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.E390K
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PAH

NM_000277.3:p.E390K

Associated Papers

Distinct mutation profiles between primary bladder cancer and circulating tumor cells warrant the use of circulating tumors cells as cellular resource for mutation follow-up.

Kim TM et al.

Bmc Cancer, 2020

33287735 (PubMed )
Supplement: 12885_2020_7684_MOESM2_ESM.xlsx › Sheet1

A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.

Wang W et al.

Bmc Medical Genetics, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."